Stargardt Disease

Topic outline

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  Ophthalmic Image(s)

  • Contributor: Byron L. Lam, MD URL
  • Contributor: Daniela Teijelo, MD URL
  • Stargardt Disease H5P

    Description
    

    A patient with bilateral progressive vision loss who presents to clinic for evaluation. Patient's vision loss started in childhood, with initial vision being 20/200 in both eyes. Fundus photos show optic nerve pallor, macular atrophy and extensive pigmentary changes in the periphery. Genetic testing reveals 3 pathogenic and 1 likely pathogenic variant in ABCA4 gene. A diagnosis of Stargardt Disease is made.
    
    Uploaded on: 12/02/2024